Linked Data
ClinVar Variation Id:
460999
dbSNP Id:
rs146659762
gnomAD v2:
16-23614823-G-A
gnomAD v4:
16-23603502-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603502G>A , CM000678.2:g.23603502G>A | GRCh38 |
| NC_000016.9:g.23614823G>A , CM000678.1:g.23614823G>A | GRCh37 |
| NC_000016.8:g.23522324G>A | NCBI36 |
| NG_007406.1:g.42856C>T , LRG_308:g.42856C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3524C>T | ENSP00000460666.3:p.Ala1175Val | |
| ENST00000565038.2:c.*1003C>T | ENSP00000459882.2:n.*1003C>T | |
| ENST00000566069.6:c.*153C>T | ENSP00000459237.2:n.*153C>T | |
| ENST00000697377.2:c.3362C>T | ENSP00000513286.2:p.Ala1121Val | |
| ENST00000697379.2:c.3524C>T | ENSP00000513287.2:p.Ala1175Val | |
| ENST00000561514.2:c.2633C>T | ENSP00000460666.2:p.Ala878Val | |
| ENST00000697374.1:c.2633C>T | ENSP00000513284.1:p.Ala878Val | |
| ENST00000697375.1:n.4865C>T | ||
| ENST00000697376.1:c.*153C>T | ENSP00000513285.1:n.*153C>T | |
| ENST00000697377.1:c.2471C>T | ENSP00000513286.1:p.Ala824Val | |
| ENST00000697378.1:n.4038C>T | ||
| ENST00000697379.1:c.2633C>T | ENSP00000513287.1:p.Ala878Val | |
| ENST00000697380.1:n.2722C>T | ||
| ENST00000697381.1:n.2213C>T | ||
| ENST00000697382.1:c.*295C>T | ENSP00000513288.1:n.*295C>T | |
| ENST00000697383.1:c.1052C>T | ENSP00000513289.1:p.Ala351Val | |
| ENST00000261584.9:c.3518C>T MANE Select | ENSP00000261584.4:p.Ala1173Val | |
| ENST00000261584.8:c.3518C>T | ENSP00000261584.4:p.Ala1173Val | |
| ENST00000566069.5:c.284C>T | ||
| ENST00000568219.5:c.2633C>T | ENSP00000454703.2:p.Ala878Val | |
| NM_024675.3:c.3518C>T , LRG_308t1:c.3518C>T | NP_078951.2:p.Ala1173Val | |
| XM_011545946.1:c.3524C>T | XP_011544248.1:p.Ala1175Val | |
| XM_011545947.1:c.*153C>T | XP_011544249.1:n.*153C>T | |
| XM_011545948.1:c.2633C>T | XP_011544250.1:p.Ala878Val | |
| XR_950851.1:n.4226C>T | ||
| XM_011545946.2:c.3524C>T | XP_011544248.1:p.Ala1175Val | |
| XM_011545947.2:c.*153C>T | XP_011544249.1:n.*153C>T | |
| XM_011545948.2:c.2633C>T | XP_011544250.1:p.Ala878Val | |
| XM_017023671.1:c.3287C>T | XP_016879160.1:p.Ala1096Val | |
| XM_017023672.2:c.3281C>T | XP_016879161.1:p.Ala1094Val | |
| XM_017023673.2:c.*153C>T | XP_016879162.1:n.*153C>T | |
| NM_024675.4:c.3518C>T MANE Select | NP_078951.2:p.Ala1173Val |